Canonical Allele Identifier: CA1855846
Gene: CNTNAP5 HGNC NCBI
COSMIC:
COSM4985314 (not active)
MyVariant.info:
GRCh38 chr2:g.124524333C>T
GRCh37 chr2:g.125281910C>T
Revel Score:
ENST00000431078 0.275
gnomAD v2:
2:125281910 C / T
gnomAD v3:
2:124524333 C / T
gnomAD v4:
chr2-124524333-C-T
Joint Max Group AF 0.0447588 (NFE)
Genomes Max Group AF 0.04443362 (NFE)
Exomes Max Group AF 0.04470715 (NFE)
ClinVar RCV:
RCV003979127
ClinVar Variation:
3056463
dbSNP:
17727261
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.124524333C>T , CM000664.2:g.124524333C>T GRCh38
NC_000002.11:g.125281910C>T , CM000664.1:g.125281910C>T GRCh37
NC_000002.10:g.124998380C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000682447.1:c.1358C>T MANE Select ENSP00000508115.1:p.Ser453Leu
ENST00000431078.1:c.1355C>T ENSP00000399013.1:p.Ser452Leu
NM_130773.3:c.1355C>T NP_570129.1:p.Ser452Leu
XM_006712258.1:c.1358C>T XP_006712321.1:p.Ser453Leu
XM_017003316.1:c.1358C>T XP_016858805.1:p.Ser453Leu
NM_001367498.1:c.1358C>T MANE Select NP_001354427.1:p.Ser453Leu
NM_130773.4:c.1355C>T NP_570129.1:p.Ser452Leu
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